International Pachyonychia Congenita Research Registry (IPCRR)

International Pachyonychia Congenita Research Registry (IPCRR) is a patient registry for those suffering from Pachyonychia Congenita (PC). PC is an ultra-rare extremely painful skin disorder that causes painful blisters and callus on feet and sometimes hands, thickened nails, cysts and other features. The IPCRR consists of a questionnaire, patient photos, optional physician notes from telephone consultation to validate questionnaire and free genetic testing.

Study Overview

• Status: Recruiting
• Conditions: Pachyonychia Congenita

Detailed Description

HOW TO PARTICIPATE IN IPCRR

Step One: The IPCRR forms are available online at http://www.pachyonychia.org/patient-registry/. The Consent Form protects your privacy and the Questionnaire gathers important details that distinguish PC from other conditions and helps to identify specific characteristics of each type of PC. You may stop and start as often as needed before completing the forms. If you are not certain about an answer, you may skip that question.

Step Two: Take photos as shown in the Questionnaire sample photo page. You can upload the images online with the Questionnaire. If you prefer, you may email the photos. Photos of your PC are very important. Note: If you do not have access to a computer and wish to have the IPCRR forms mailed, please contact PC Project.

Step Three: When your Consent Form, Questionnaire, and Photos are received by PC Project, we will have an intake call with you to review your information and to discuss the next steps.

Step Four: If referred for genetic testing, you will then be sent the special saliva test kit (no travel required). Usually, only saliva is needed and from only one family member. The sample is collected by spitting into the vial in the kit and then mailing it in the envelope provided. Genetic testing is complex and time-consuming - it is not like a sugar test or pregnancy test, and can take many months to be completed, but the testing begins as soon as your sample arrives.

When the confirming results are received, a full genetic testing report is provided to you with precise information and suggestions specific to your condition. You may find the report very valuable with physicians or other medical providers as well as for school personnel, employers, disability hearings, or other special needs. All information is held confidentially by PC Project and the research is reported anonymously. There is no cost to you for any of these tests or assistance from PC Project. You may also request additional consultations as needed.

• Study Type: Observational
• Enrollment (Anticipated): 2000

Contacts and Locations

• Study Contact: Name: Holly A Evans; Phone Number: 8019878758; Email: holly.evans@pachyonychia.org
• Study Contact Backup: Name: Janice N Schwartz; Phone Number: 8019878758; Email: jan.schwartz@pachyonychia.org

Study Locations

• United States
  • Utah
    • Salt Lake City, Utah, United States, 84117
      • Recruiting
      • Pachyonychia Congenita Project
      • Contact: Janice Schwartz; Phone Number: 801-987-8758; Email: jan.schwartz@pachyonychia.org
      • Contact: Holly Evans; Phone Number: 8019878758; Email: holly.evans@pachyonychia.org
      • Principal Investigator: C. David Hansen, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All persons with PC in all countries are being invited to register. It is not known how many persons have PC although it is known to be a very rare disease.

Description

Inclusion Criteria:

• Clinical diagnosis of Pachyonychia Congenita or similar disorder

Exclusion Criteria:

• N/A

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Describing patterns and traits of Pachyonychia Congenita	Once a year

Collaborators and Investigators

• Sponsor: Pachyonychia Congenita Project
• Investigators: Principal Investigator: C. David Hansen, MD, Pachyonychia Congenita Project

Publications and helpful links

General Publications

• Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6.
• Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatol. 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448.
• McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24.
• Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20.

Helpful Links

• Pachyonychia Congenita Project Website
• Link to IPCRR information and forms
• Link to data/graphs from IPCRR
• Link to Published Research Articles on PC

Study record dates

Study Major Dates

• Study Start: April 1, 2004
• Primary Completion (Anticipated): December 1, 2030
• Study Completion (Anticipated): December 1, 2030

Study Registration Dates

• First Submitted: December 12, 2014
• First Submitted That Met QC Criteria: December 16, 2014
• First Posted (Estimate): December 22, 2014

Study Record Updates

• Last Update Posted (Actual): November 21, 2018
• Last Update Submitted That Met QC Criteria: November 19, 2018
• Last Verified: November 1, 2018

More Information

Terms related to this study

• Keywords: Pain; Cysts; Nail Dystrophy; Plantar Keratoderma; Palmar Keratoderma; Leukokeratosis; KRT17; KRT16; KRT6A; KRT6B; KRT6C
• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Pathological Conditions, Anatomical; Skin Diseases, Genetic; Nail Diseases; Skin Abnormalities; Abnormalities, Multiple; Ectodermal Dysplasia; Pachyonychia Congenita; Nails, Malformed
• Other Study ID Numbers: 20040468

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No